Familial dysautonomia: iPS cell disease model
Nature, Editor’s Summary “Familial dysautonomia is a rare but fatal peripheral neuropathy caused by a mutation in the gene...Nature, Editor’s Summary
“Familial dysautonomia is a rare but fatal peripheral neuropathy caused by a mutation in the gene IKBKAP that encodes a protein involved in transcriptional elongation.”
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See related article:
“Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs”
Gabsang, L., Nature, 17 September 2009, pp. 402-406.